Liang Distal Myopathy malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases
Aliases & Descriptions for Liang Distal Myopathy:
Orphanet epidemiological data:53
laing early-onset distal myopathy:
Inheritance: Autosomal dominant; Age of onset: Childhood
Penetrance: penetrance appears to be at least 85%. ...
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases
Rare neurological diseases
NIH Rare Diseases:47 Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion. Last updated: 4/1/2011
MalaCards based summary: Liang Distal Myopathy, also known as laing early-onset distal myopathy, is related to myopathy and inclusion body myositis, and has symptoms including high palate, neck muscle weakness and gait disturbance. An important gene associated with Liang Distal Myopathy is MYH7 (Myosin Heavy Chain 7). Affiliated tissues include skeletal muscle.
Genetics Home Reference:25 Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. This disorder causes progressive muscle weakness that appears in childhood. The first sign of Laing distal myopathy is usually weakness in certain muscles in the feet and ankles. This weakness leads to tightening of the Achilles tendon (the band that connects the heel of the foot to the calf muscles), an inability to lift the first (big) toe, and a high-stepping walk. Months to years later, muscle weakness develops in the hands and wrists. Weakness in these muscles makes it difficult to lift the fingers, particularly the third and fourth fingers. Many affected people also experience hand tremors.
UniProtKB/Swiss-Prot:69 Myopathy, distal, 1: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.
Description from OMIM:51 160500
GeneReviews for NBK1433
Diseases related to Liang Distal Myopathy via text searches within MalaCards or GeneCards Suite gene sharing:
Human phenotypes related to Liang Distal Myopathy:63 (show all 18)
UMLS symptoms related to Liang Distal Myopathy:myalgia, gait, drop foot
MalaCards organs/tissues related to Liang Distal Myopathy:35
Search GEO for disease gene expression data for Liang Distal Myopathy.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet